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ARB2A ARB2 cotranscriptional regulator A [ Homo sapiens (human) ]

Gene ID: 83989, updated on 3-Apr-2024

Summary

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Official Symbol
ARB2Aprovided by HGNC
Official Full Name
ARB2 cotranscriptional regulator Aprovided by HGNC
Primary source
HGNC:HGNC:25365
See related
Ensembl:ENSG00000113391 AllianceGenome:HGNC:25365
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Toupee; C5orf21; FAM172A
Summary
Predicted to contribute to siRNA binding activity. Predicted to be involved in heterochromatin assembly by small RNA; neural crest cell development; and regulation of alternative mRNA splicing, via spliceosome. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 1.6), brain (RPKM 1.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
5q15
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (93617725..94111699, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (94101790..94595756, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (92953431..93447404, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NR2F1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:92931735-92932535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:92932536-92933335 Neighboring gene uncharacterized LOC124901027 Neighboring gene NANOG hESC enhancer GRCh37_chr5:92935096-92935597 Neighboring gene Sharpr-MPRA regulatory region 13970 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:92953840-92954648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16179 Neighboring gene uncharacterized LOC124901028 Neighboring gene nuclear receptor subfamily 2 group F member 1 Neighboring gene microRNA 2277 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:93091910-93092657 Neighboring gene nucleophosmin 1 pseudogene 27 Neighboring gene POU domain class 5, transcription factor 2 Neighboring gene VISTA enhancer hs271 Neighboring gene MPRA-validated peak5355 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:93361212-93361712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22789 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:93393287-93393833 Neighboring gene uncharacterized LOC105379087 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:93520520-93521028 Neighboring gene KIAA0825 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:93690795-93691426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:93692061-93692692 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:93697863-93698503 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:93800512-93801711 Neighboring gene MT-ND5 pseudogene 12 Neighboring gene MT-CYB pseudogene 35 Neighboring gene MT-ND6 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. FAM172A promotes follicular thyroid carcinogenesis and may be a marker of FTC. Xu PP, et al. Endocr Relat Cancer, 2020 Nov. PMID 33095186, Free PMC Article
  2. FAM172A inhibits EMT in pancreatic cancer via ERK-MAPK signaling. Chen Y, et al. Biol Open, 2020 Feb 7. PMID 31988090, Free PMC Article
  3. The Effect of Protein FAM172A on Proliferation in HepG2 Cells and Investigation of the Possible Molecular Mechanism. Zhao H, et al. Anal Cell Pathol (Amst), 2019. PMID 31915594, Free PMC Article
  4. Detection of FAM172A expressed in circulating tumor cells is a feasible method to predict high-risk subgroups of colorectal cancer. Cui CH, et al. Tumour Biol, 2017 Jun. PMID 28618931
  5. FAM172A is a tumor suppressor in colorectal carcinoma. Cui C, et al. Tumour Biol, 2016 May. PMID 26637224

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import.
    Title: The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import.
  2. FAM172A promotes follicular thyroid carcinogenesis and may be a marker of FTC.
    Title: FAM172A promotes follicular thyroid carcinogenesis and may be a marker of FTC.
  3. FAM172A inhibits EMT in pancreatic cancer via ERK-MAPK signaling.
    Title: FAM172A inhibits EMT in pancreatic cancer via ERK-MAPK signaling.
  4. FAM172A recombinant protein could induce proliferation of HepG2 cells, in which the MAPK/ERK and PI3K/Akt signaling pathways might be involved. The role of FAM172A in HepG2 cell proliferation also indicated its possible involvement in hepatocellular carcinoma.
    Title: The Effect of Protein FAM172A on Proliferation in HepG2 Cells and Investigation of the Possible Molecular Mechanism.
  5. our study showed that miR27a expression is a diagnostic and prognostic marker and correlates with overall survival of patients with CRC. Therefore, it may be a therapeutic approach for preventing metastasis of CRC to inhibit expression of miR27a or increase expression of FAM172A.
    Title: miR‑27a promotes proliferation, migration, and invasion of colorectal cancer by targeting FAM172A and acts as a diagnostic and prognostic biomarker.
  6. Mesenchymal circulating tumor cells and FAM172A detection may predict highrisk stage II colorectal cancer. Our research proved that circulating tumor cells were feasible surrogate samples to detect gene expression and could serve as a predictive biomarker for tumor evaluation
    Title: Detection of FAM172A expressed in circulating tumor cells is a feasible method to predict high-risk subgroups of colorectal cancer.
  7. FAM172A might play a role in the carcinogenesis of CRC by inhibiting the growth and invasion of CRC cells. The mechanisms by which FAM172A exerts its function seem to involve activation of ERS signaling.
    Title: FAM172A is a tumor suppressor in colorectal carcinoma.
  8. FAM172A protein is expressed at high levels in human papillary thyroid carcinoma, which may promote cell proliferation via activation of the p38 MAPK signaling pathway.
    Title: FAM172A protein promotes the proliferation of human papillary thyroid carcinoma cells via the p38 mitogen-activated protein kinase pathway.
  9. FAM172A protein promotes cell proliferation, inhibits cell apoptosis and facilitates S-phase entry in HEK293 cells.
    Title: [Effect of FAM172A protein on apoptosis and proliferation in HEK293 cells].
  10. FAM172 protein expression in human aortic smooth muscle cells was up-regulated by high glucose levels in a concentration-dependent and time-course manner.
    Title: Identification of the novel protein FAM172A, and its up-regulation by high glucose in human aortic smooth muscle cells.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of family with sequence similarity 172, member A (C5orf21; FAM172A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp564D172

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
contributes_to siRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in neural crest cell development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of alternative mRNA splicing, via spliceosome ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulatory ncRNA-mediated heterochromatin formation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
cotranscriptional regulator ARB2A; cotranscriptional regulator FAM172A
Names
family with sequence similarity 172 member A
protein FAM172A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001163417.1 → NP_001156889.1  cotranscriptional regulator ARB2A isoform 2

    See identical proteins and their annotated locations for NP_001156889.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK296986, BC012007, BC020584, BP398089, DC324758, W15296
    Consensus CDS
    CCDS54880.1
    UniProtKB/Swiss-Prot
    Q8WUF8
    Related
    ENSP00000423841.1, ENST00000509163.5
    Conserved Domains (1) summary
    pfam09757
    Location:103 → 271
    Arb2; Arb2 domain

  2. NM_001163418.1 → NP_001156890.1  cotranscriptional regulator ARB2A isoform 3

    See identical proteins and their annotated locations for NP_001156890.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK295879, BC012007, BC020584, BP398089, DC324758, W15296
    Consensus CDS
    CCDS54879.1
    UniProtKB/Swiss-Prot
    Q8WUF8
    Related
    ENSP00000426284.1, ENST00000505869.5
    Conserved Domains (1) summary
    pfam09757
    Location:32 → 119
    Arb2; Arb2 domain

  3. NM_032042.6 → NP_114431.2  cotranscriptional regulator ARB2A isoform 1 precursor

    See identical proteins and their annotated locations for NP_114431.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK312930, BC012007, BC020584, BP398089, DC324758, W15296
    Consensus CDS
    CCDS4069.1
    UniProtKB/Swiss-Prot
    B2R7C6, B4DJ14, B4DLG5, Q8WUF8, Q9H0U8
    Related
    ENSP00000379294.3, ENST00000395965.8
    Conserved Domains (1) summary
    pfam09757
    Location:101 → 317
    Arb2; Arb2 domain

RNA

  1. NR_028080.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297471, BC012007, BC020584, BP398089, DC324758, DC374283, W15296

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    93617725..94111699 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272110.4 → XP_005272167.1  cotranscriptional regulator FAM172A isoform X17

    Conserved Domains (2) summary
    COG0596
    Location:101 → 219
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    pfam09757
    Location:149 → 198
    Arb2; Arb2 domain

  2. XM_047417820.1 → XP_047273776.1  cotranscriptional regulator FAM172A isoform X20

    UniProtKB/TrEMBL
    B4DMI0
    Related
    ENSP00000421834.1, ENST00000509739.5

  3. XM_047417814.1 → XP_047273770.1  cotranscriptional regulator FAM172A isoform X13

  4. XM_047417810.1 → XP_047273766.1  cotranscriptional regulator FAM172A isoform X8

  5. XM_047417818.1 → XP_047273774.1  cotranscriptional regulator FAM172A isoform X16

  6. XM_017009953.2 → XP_016865442.1  cotranscriptional regulator FAM172A isoform X2

    Conserved Domains (1) summary
    pfam09757
    Location:127 → 295
    Arb2; Arb2 domain

  7. XM_005272105.5 → XP_005272162.1  cotranscriptional regulator FAM172A isoform X9

    Conserved Domains (1) summary
    pfam09757
    Location:204 → 253
    Arb2; Arb2 domain

  8. XM_005272106.5 → XP_005272163.1  cotranscriptional regulator FAM172A isoform X10

    Conserved Domains (2) summary
    COG0596
    Location:147 → 265
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    pfam09757
    Location:195 → 244
    Arb2; Arb2 domain

  9. XM_006714717.4 → XP_006714780.1  cotranscriptional regulator FAM172A isoform X1

    See identical proteins and their annotated locations for XP_006714780.1

    UniProtKB/Swiss-Prot
    B2R7C6, B4DJ14, B4DLG5, Q8WUF8, Q9H0U8
    Conserved Domains (1) summary
    pfam09757
    Location:101 → 317
    Arb2; Arb2 domain

  10. XM_047417817.1 → XP_047273773.1  cotranscriptional regulator FAM172A isoform X10

  11. XM_017009958.2 → XP_016865447.1  cotranscriptional regulator FAM172A isoform X13

    UniProtKB/TrEMBL
    E9PBM2
    Conserved Domains (1) summary
    pfam09757
    Location:66 → 234
    Arb2; Arb2 domain

  12. XM_047417815.1 → XP_047273771.1  cotranscriptional regulator FAM172A isoform X13

  13. XM_017009957.2 → XP_016865446.1  cotranscriptional regulator FAM172A isoform X13

    UniProtKB/TrEMBL
    E9PBM2
    Conserved Domains (1) summary
    pfam09757
    Location:66 → 234
    Arb2; Arb2 domain

  14. XM_006714718.4 → XP_006714781.1  cotranscriptional regulator FAM172A isoform X13

    See identical proteins and their annotated locations for XP_006714781.1

    UniProtKB/TrEMBL
    E9PBM2
    Conserved Domains (1) summary
    pfam09757
    Location:66 → 234
    Arb2; Arb2 domain

  15. XM_017009955.2 → XP_016865444.1  cotranscriptional regulator FAM172A isoform X8

    UniProtKB/Swiss-Prot
    Q8WUF8
    Conserved Domains (1) summary
    pfam09757
    Location:103 → 271
    Arb2; Arb2 domain

  16. XM_011543671.4 → XP_011541973.1  cotranscriptional regulator FAM172A isoform X7

    Conserved Domains (1) summary
    pfam09757
    Location:149 → 317
    Arb2; Arb2 domain

  17. XM_047417811.1 → XP_047273767.1  cotranscriptional regulator FAM172A isoform X7

  18. XM_047417812.1 → XP_047273768.1  cotranscriptional regulator FAM172A isoform X11

  19. XM_005272103.5 → XP_005272160.1  cotranscriptional regulator FAM172A isoform X4

    Conserved Domains (1) summary
    pfam09757
    Location:149 → 317
    Arb2; Arb2 domain

  20. XM_017009954.3 → XP_016865443.1  cotranscriptional regulator FAM172A isoform X3

    Conserved Domains (1) summary
    pfam09757
    Location:149 → 317
    Arb2; Arb2 domain

  21. XM_047417813.1 → XP_047273769.1  cotranscriptional regulator FAM172A isoform X12

  22. XM_011543668.4 → XP_011541970.1  cotranscriptional regulator FAM172A isoform X5

    Conserved Domains (1) summary
    pfam09757
    Location:149 → 317
    Arb2; Arb2 domain

  23. XM_047417816.1 → XP_047273772.1  cotranscriptional regulator FAM172A isoform X14

    Related
    ENSP00000424097.1, ENST00000502503.1

  24. XM_011543670.4 → XP_011541972.1  cotranscriptional regulator FAM172A isoform X6

    Conserved Domains (1) summary
    pfam09757
    Location:149 → 317
    Arb2; Arb2 domain

  25. XM_047417819.1 → XP_047273775.1  cotranscriptional regulator FAM172A isoform X18

  26. XM_017009961.3 → XP_016865450.1  cotranscriptional regulator FAM172A isoform X21

  27. XM_005272109.6 → XP_005272166.1  cotranscriptional regulator FAM172A isoform X15

    See identical proteins and their annotated locations for XP_005272166.1

  28. XM_017009962.2 → XP_016865451.1  cotranscriptional regulator FAM172A isoform X22

  29. XM_005272111.6 → XP_005272168.1  cotranscriptional regulator FAM172A isoform X19

  30. XM_047417822.1 → XP_047273778.1  cotranscriptional regulator FAM172A isoform X19

RNA

  1. XR_007058646.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    94101790..94595756 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353660.1 → XP_054209635.1  cotranscriptional regulator FAM172A isoform X17

  2. XM_054353663.1 → XP_054209638.1  cotranscriptional regulator FAM172A isoform X20

    UniProtKB/TrEMBL
    B4DMI0

  3. XM_054353651.1 → XP_054209626.1  cotranscriptional regulator FAM172A isoform X13

  4. XM_054353644.1 → XP_054209619.1  cotranscriptional regulator FAM172A isoform X8

  5. XM_054353659.1 → XP_054209634.1  cotranscriptional regulator FAM172A isoform X16

  6. XM_054353638.1 → XP_054209613.1  cotranscriptional regulator FAM172A isoform X2

  7. XM_054353647.1 → XP_054209622.1  cotranscriptional regulator FAM172A isoform X9

  8. XM_054353648.1 → XP_054209623.1  cotranscriptional regulator FAM172A isoform X10

  9. XM_054353637.1 → XP_054209612.1  cotranscriptional regulator FAM172A isoform X1

    UniProtKB/Swiss-Prot
    B2R7C6, B4DJ14, B4DLG5, Q8WUF8, Q9H0U8

  10. XM_054353657.1 → XP_054209632.1  cotranscriptional regulator FAM172A isoform X10

  11. XM_054353655.1 → XP_054209630.1  cotranscriptional regulator FAM172A isoform X13

  12. XM_054353652.1 → XP_054209627.1  cotranscriptional regulator FAM172A isoform X13

  13. XM_054353653.1 → XP_054209628.1  cotranscriptional regulator FAM172A isoform X13

  14. XM_054353654.1 → XP_054209629.1  cotranscriptional regulator FAM172A isoform X13

  15. XM_054353645.1 → XP_054209620.1  cotranscriptional regulator FAM172A isoform X8

  16. XM_054353643.1 → XP_054209618.1  cotranscriptional regulator FAM172A isoform X7

  17. XM_054353646.1 → XP_054209621.1  cotranscriptional regulator FAM172A isoform X7

  18. XM_054353649.1 → XP_054209624.1  cotranscriptional regulator FAM172A isoform X11

  19. XM_054353640.1 → XP_054209615.1  cotranscriptional regulator FAM172A isoform X4

  20. XM_054353639.1 → XP_054209614.1  cotranscriptional regulator FAM172A isoform X3

  21. XM_054353650.1 → XP_054209625.1  cotranscriptional regulator FAM172A isoform X12

  22. XM_054353641.1 → XP_054209616.1  cotranscriptional regulator FAM172A isoform X5

  23. XM_054353656.1 → XP_054209631.1  cotranscriptional regulator FAM172A isoform X14

  24. XM_054353642.1 → XP_054209617.1  cotranscriptional regulator FAM172A isoform X6

  25. XM_054353665.1 → XP_054209640.1  cotranscriptional regulator FAM172A isoform X21

  26. XM_054353661.1 → XP_054209636.1  cotranscriptional regulator FAM172A isoform X18

  27. XM_054353658.1 → XP_054209633.1  cotranscriptional regulator FAM172A isoform X15

  28. XM_054353666.1 → XP_054209641.1  cotranscriptional regulator FAM172A isoform X22

  29. XM_054353662.1 → XP_054209637.1  cotranscriptional regulator FAM172A isoform X19

  30. XM_054353664.1 → XP_054209639.1  cotranscriptional regulator FAM172A isoform X19

RNA

  1. XR_008487183.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WUF8.1 GenPept UniProtKB/Swiss-Prot:Q8WUF8

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